Meschede D, Dworniczak B, Nieschlag E, Horst J
Institut für Humangenetik, Westfälische Wilhelms-Universität, Münster, Germany.
Biomed Pharmacother. 1998;52(5):197-203. doi: 10.1016/S0753-3322(98)80016-4.
Azoospermia due to an obstruction of the genital tract is one of numerous possible pathophysiologic mechanisms underlying male infertility. The blockage of the seminal ducts may be acquired or congenital. Only recently has the strong association between mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene and various subtypes of obstructive azoospermia been elucidated. Most patients with congenital bilateral absence of the vas deferens or bilateral ejaculatory duct obstruction are carriers of such mutations. The relationship between abnormal CFTR alleles and unilateral absence of the vas deferens, isolated seminal vesicle anomalies, and Young syndrome is less well characterized and awaits further investigation.
生殖道梗阻所致无精子症是男性不育众多可能的病理生理机制之一。输精管阻塞可能是后天获得性的，也可能是先天性的。直到最近，囊性纤维化跨膜传导调节因子（CFTR）基因突变与各种梗阻性无精子症亚型之间的密切关联才得以阐明。大多数先天性双侧输精管缺如或双侧射精管梗阻患者是此类突变的携带者。CFTR等位基因异常与单侧输精管缺如、孤立性精囊异常及杨氏综合征之间的关系尚不明确，有待进一步研究。
